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目的探讨不同孕晚期产前诊断指征在胎儿染色体异常诊断中的临床应用。方法通过对有产前诊断指征的7467例孕妇抽取脐带血,行细胞遗传学检查。胎儿染色体结构异常需对父母进行外周血染色体检测。结果 7476例脐带血标本中,共检测出226例染色体非多态性结构异常,其中染色体数目异常175例,染色体易位21例,染色体缺失8例,染色体增加3例,染色体重复2例,染色体环状2例;嵌合体15例。结论孕晚期对有特定的产前诊断指征的孕妇行胎儿脐带血细胞核型分析是十分必要。
Objective To investigate the clinical application of prenatal diagnosis in different stages of third trimester in the diagnosis of fetal chromosomal abnormalities. Methods 7467 pregnant women with prenatal diagnosis indications of cord blood were drawn and examined by cytogenetics. Fetal chromosomal structural abnormalities need to be detected in peripheral blood chromosomes. Results Totally 226 chromosome abnormalities were detected in 7476 cases of umbilical cord blood samples, including 175 cases with abnormal chromosome number, 21 cases with chromosomal translocation, 8 cases with chromosome deletion, 3 cases with chromosome increase, 2 cases with chromosome duplication, 2 cases with chromosome duplication Cyclic 2 cases; chimerism in 15 cases. Conclusion It is very necessary for karyotype analysis of umbilical cord blood cells in pregnant women who have certain prenatal diagnosis indications in the third trimester of pregnancy.